|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
Genes in this family provide instructions for making enzymes that act as glycosyltransferases. Glycosyltransferases modify molecules including proteins, sugars, and fats (lipids) by adding single or multiple sugar molecules to them through a process called glycosylation. Each sugar is transferred from one molecule, called the donor, to another molecule, called the acceptor; the donor and acceptor molecules are often proteins or lipids. Glycosylation modifies the acceptor molecules so they can perform a wider variety of functions. It often takes multiple glycosyltransferases to complete the process of glycosylation on a single protein or lipid.
Mutations in genes in the glycosyltransferase group 1 domain containing gene family disrupt the normal glycosylation of proteins and lipids and impair their function. Because glycosylation is performed on a variety of proteins and lipids that are involved in many functions throughout the body, changes in glycosyltransferase genes can cause a range of disorders that affect different body systems.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of these members of the glycosyltransferase group 1 domain containing gene family: GYS1, GYS2, and PIGA.
Genetics Home Reference includes these conditions related to genes in the glycosyltransferase group 1 domain containing gene family:
You may find the following resources about the glycosyltransferase group 1 domain containing gene family helpful.
class ; domain ; gene ; glycan ; glycogen ; glycosylation ; lipid ; molecule ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).
These sources were used to develop the Genetics Home Reference summary for the glycosyltransferase group 1 domain containing gene family.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.